title: Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene.
abstract: In this work, we explored the existence of genetic variants within the apolipoprotein E gene transcriptional regulatory region, using a denaturing gradient gel electrophoresis screening of a region comprising nucleotides -1017 to +406. Upon a population study, three new polymorphic sites (-491, -427 and -219) and two mutations were found. Functional effects of the polymorphisms, assayed by transient transfection and electrophoretic mobility shift assays in a human hepatoma cell line, showed that polymorphisms at sites -491 and -219 of the APOE promoter produce variations in the transcriptional activity of the gene, most probably through differential binding of nuclear proteins.
authors.affiliation: Departamento de Biología Molecular, (C.S.I.C.-U.A.M.), Universidad Autónoma de Madrid, Cantoblanco, Spain.
authors.forename: M J
authors.initials: MJ
authors.lastname: Artiga
authors.forename: M J
authors.initials: MJ
authors.lastname: Bullido
authors.forename: I
authors.initials: I
authors.lastname: Sastre
authors.forename: M
authors.initials: M
authors.lastname: Recuero
authors.forename: M A
authors.initials: MA
authors.lastname: García
authors.forename: J
authors.initials: J
authors.lastname: Aldudo
authors.forename: J
authors.initials: J
authors.lastname: Vázquez
authors.forename: F
authors.initials: F
authors.lastname: Valdivieso
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004591:Electrophoresis, Polyacrylamide Gel; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009687:Nuclear Proteins / Q000378:metabolism; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic; D014158:Transcription, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D001057:Apolipoproteins E; D009687:Nuclear Proteins